Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

Details

Ressource 1Download: BIB_14A91F43470B.P001.pdf (305.33 [Ko])
State: Public
Version: author
Serval ID
serval:BIB_14A91F43470B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.
Journal
American Journal of Human Genetics
Author(s)
Casal M.L., Lewis J.R., Mauldin E.A., Tardivel A., Ingold K., Favre M., Paradies F., Demotz S., Gaide O., Schneider P.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Publication state
Published
Issued date
2007
Volume
81
Number
5
Pages
1050-1056
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Patients with defective ectodysplasin A (EDA) are affected by X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by sparse hair, inability to sweat, decreased lacrimation, frequent pulmonary infections, and missing and malformed teeth. The canine model of XLHED was used to study the developmental impact of EDA on secondary dentition, since dogs have an entirely brachyodont, diphyodont dentition similar to that in humans, as opposed to mice, which have only permanent teeth (monophyodont dentition), some of which are very different (aradicular hypsodont) than brachyodont human teeth. Also, clinical signs in humans and dogs with XLHED are virtually identical, whereas several are missing in the murine equivalent. In our model, the genetically missing EDA was compensated for by postnatal intravenous administration of soluble recombinant EDA. Untreated XLHED dogs have an incomplete set of conically shaped teeth similar to those seen in human patients with XLHED. After treatment with EDA, significant normalization of adult teeth was achieved in four of five XLHED dogs. Moreover, treatment restored normal lacrimation and resistance to eye and airway infections and improved sweating ability. These results not only provide proof of concept for a potential treatment of this orphan disease but also demonstrate an essential role of EDA in the development of secondary dentition.
Keywords
Animals, Animals, Newborn, Dentition, Disease Models, Animal, Dogs, Ectodermal Dysplasia/therapy, Ectodysplasins/administration & dosage, Ectodysplasins/pharmacology, Female, Genetic Diseases, X-Linked/therapy, Humans, Injections, Intravenous, Lacrimal Apparatus/drug effects, Lacrimal Apparatus/secretion, Male, Mandible/drug effects, Mandible/radiography, Mice, Mucociliary Clearance/drug effects, Recombinant Proteins/administration & dosage, Recombinant Proteins/pharmacology, Sweating/drug effects, Treatment Outcome
Pubmed
Web of science
Open Access
Yes
Create date
19/01/2008 18:30
Last modification date
20/08/2019 13:43
Usage data